Canonical Allele Identifier: CA493798277

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16161465C>G , CM000678.2:g.16161465C>G	GRCh38
NC_000016.9:g.16255322C>G , CM000678.1:g.16255322C>G	GRCh37
NC_000016.8:g.16162823C>G	NCBI36
NG_007558.2:g.67007G>C
NG_007558.3:g.67153G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001171.6:c.3606G>C MANE Select	NP_001162.5:p.Val1202=
ENST00000205557.12:c.3606G>C MANE Select	ENSP00000205557.7:p.Val1202=
NM_001171.5:c.3606G>C	NP_001162.4:p.Val1202=
NM_001351800.1:c.3264G>C	NP_001338729.1:p.Val1088=
NR_147784.1:n.3268G>C
ENST00000205557.11:c.3606G>C	ENSP00000205557.7:p.Val1202=
ENST00000456970.6:c.3231G>C	ENSP00000405002.2:n.3231G>C
ENST00000622290.4:c.*815G>C	ENSP00000483331.1:n.*815G>C
ENST00000622290.5:c.3606G>C	ENSP00000483331.2:p.Val1202=
ENST00000640696.1:c.420G>C	ENSP00000492197.1:p.Val140=
XM_011522479.1:c.3573G>C	XP_011520781.1:p.Val1191=
XM_011522479.2:c.3573G>C	XP_011520781.1:p.Val1191=
XM_011522480.1:c.3264G>C	XP_011520782.1:p.Val1088=
XM_011522481.1:c.3264G>C	XP_011520783.1:p.Val1088=
XM_011522481.3:c.3264G>C	XP_011520783.1:p.Val1088=
XM_017023212.1:c.3438G>C	XP_016878701.1:p.Val1146=
XM_017023214.1:c.3406G>C	XP_016878703.1:p.Gly1136Arg
XM_024450261.1:c.3642G>C	XP_024306029.1:p.Val1214=
XR_932836.1:n.3841G>C
XR_932836.2:n.3787G>C
XR_932837.1:n.3642G>C
XR_932837.3:n.3587G>C
XR_932838.1:n.3642G>C
XR_932838.3:n.3587G>C
XR_933133.1:n.260-1231C>G
XR_933134.1:n.607-1231C>G